Curfs LMG - Search Results

1

A catalogue of 863 Rett-syndrome-causing MECP2 mutations and lessons learned from data integration.

Ehrhart F, Jacobsen A, Rigau M, Bosio M, Kaliyaperumal R, Laros JFJ, Willighagen EL, Valencia A, Roos M, Capella-Gutierrez S, Curfs LMG, Evelo CT. Ehrhart F, et al. Among authors: curfs lmg. Sci Data. 2021 Jan 15;8(1):10. doi: 10.1038/s41597-020-00794-7. Sci Data. 2021. PMID: 33452270 Free PMC article.

2

Rett syndrome - biological pathways leading from MECP2 to disorder phenotypes.

Ehrhart F, Coort SL, Cirillo E, Smeets E, Evelo CT, Curfs LM. Ehrhart F, et al. Orphanet J Rare Dis. 2016 Nov 25;11(1):158. doi: 10.1186/s13023-016-0545-5. Orphanet J Rare Dis. 2016. PMID: 27884167 Free PMC article. Review.

3

Current developments in the genetics of Rett and Rett-like syndrome.

Ehrhart F, Sangani NB, Curfs LMG. Ehrhart F, et al. Among authors: curfs lmg. Curr Opin Psychiatry. 2018 Mar;31(2):103-108. doi: 10.1097/YCO.0000000000000389. Curr Opin Psychiatry. 2018. PMID: 29206688 Review.

4

MECP2 variation in Rett syndrome-An overview of current coverage of genetic and phenotype data within existing databases.

Townend GS, Ehrhart F, van Kranen HJ, Wilkinson M, Jacobsen A, Roos M, Willighagen EL, van Enckevort D, Evelo CT, Curfs LMG. Townend GS, et al. Among authors: curfs lmg. Hum Mutat. 2018 Jul;39(7):914-924. doi: 10.1002/humu.23542. Epub 2018 May 21. Hum Mutat. 2018. PMID: 29704307 Free PMC article.

5

Integrated analysis of human transcriptome data for Rett syndrome finds a network of involved genes.

Ehrhart F, Coort SL, Eijssen L, Cirillo E, Smeets EE, Bahram Sangani N, Evelo CT, Curfs LMG. Ehrhart F, et al. Among authors: curfs lmg. World J Biol Psychiatry. 2020 Dec;21(10):712-725. doi: 10.1080/15622975.2019.1593501. Epub 2019 Apr 29. World J Biol Psychiatry. 2020. PMID: 30907210 Free article.

6

A resource to explore the discovery of rare diseases and their causative genes.

Ehrhart F, Willighagen EL, Kutmon M, van Hoften M, Curfs LMG, Evelo CT. Ehrhart F, et al. Among authors: curfs lmg. Sci Data. 2021 May 4;8(1):124. doi: 10.1038/s41597-021-00905-y. Sci Data. 2021. PMID: 33947870 Free PMC article.

7

Beyond Pathway Analysis: Identification of Active Subnetworks in Rett Syndrome.

Miller RA, Ehrhart F, Eijssen LMT, Slenter DN, Curfs LMG, Evelo CT, Willighagen EL, Kutmon M. Miller RA, et al. Among authors: curfs lmg. Front Genet. 2019 Feb 21;10:59. doi: 10.3389/fgene.2019.00059. eCollection 2019. Front Genet. 2019. PMID: 30847002 Free PMC article.

8

Prader-Willi syndrome and Angelman syndrome: Visualisation of the molecular pathways for two chromosomal disorders.

Ehrhart F, Janssen KJM, Coort SL, Evelo CT, Curfs LMG. Ehrhart F, et al. Among authors: curfs lmg. World J Biol Psychiatry. 2019 Nov;20(9):670-682. doi: 10.1080/15622975.2018.1439594. Epub 2018 Mar 1. World J Biol Psychiatry. 2019. PMID: 29425059 Free article. Review.

9

Review and gap analysis: molecular pathways leading to fetal alcohol spectrum disorders.

Ehrhart F, Roozen S, Verbeek J, Koek G, Kok G, van Kranen H, Evelo CT, Curfs LMG. Ehrhart F, et al. Among authors: curfs lmg. Mol Psychiatry. 2019 Jan;24(1):10-17. doi: 10.1038/s41380-018-0095-4. Epub 2018 Jun 11. Mol Psychiatry. 2019. PMID: 29892052 Free PMC article. Review.

10

Genotype-phenotype relationships as prognosticators in Rett syndrome should be handled with care in clinical practice.

Halbach NS, Smeets EE, van den Braak N, van Roozendaal KE, Blok RM, Schrander-Stumpel CT, Frijns JP, Maaskant MA, Curfs LM. Halbach NS, et al. Am J Med Genet A. 2012 Feb;158A(2):340-50. doi: 10.1002/ajmg.a.34418. Epub 2011 Dec 21. Am J Med Genet A. 2012. PMID: 22190343

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